Canonical Allele Identifier: CA1680156278
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.166969587G>C , CM000668.2:g.166969587G>C GRCh38
NC_000006.11:g.167383075G>C , CM000668.1:g.167383075G>C GRCh37
NC_000006.10:g.167303065G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943243.1:n.802+39C>G
XR_943244.1:n.3666+39C>G
XR_943245.1:n.3324+39C>G
XR_943246.1:n.398+39C>G
XR_943248.1:n.3262+39C>G
XR_943243.2:n.2885+39C>G
XR_943244.2:n.3666+39C>G
XR_943245.2:n.3327+39C>G